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rs80357545

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;T) 6 BRCA1 variant considered pathogenic for breast cancer
(T;T) 0 common in clinvar


Make rs80357545(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43091749
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357545
ebirs80357545
HLIrs80357545
Exacrs80357545
Varsomers80357545
Maprs80357545
PheGenIrs80357545
hapmaprs80357545
1000 genomesrs80357545
hgdprs80357545
ensemblrs80357545
gopubmedrs80357545
geneviewrs80357545
scholarrs80357545
googlers80357545
pharmgkbrs80357545
gwascentralrs80357545
openSNPrs80357545
23andMers80357545
23andMe allrs80357545
SNP Nexus

SNPshotrs80357545
SNPdbers80357545
MSV3drs80357545
GWAS Ctlgrs80357545
Max Magnitude6
rs80357545, also known as 3901delT, c.3782_3782delT and p.Leu1261Tyrfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357545(;)
Alt rs80357545(;)
Reference rs80357545(T;T)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41243766delA
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048331.2, RCV000112184.1,